{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T05:48:30Z","timestamp":1790056110083,"version":"4.0.1"},"reference-count":81,"publisher":"American Society for Clinical Investigation","issue":"11","funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","award":["1060303,1088215,1127157"],"award-info":[{"award-number":["1060303,1088215,1127157"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"crossref","award":["JMF2016-1"],"award-info":[{"award-number":["JMF2016-1"]}],"id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,6]]},"abstract":"<jats:p>\n                    Biallelic inactivating mutations in\n                    <jats:italic>DOCK8<\/jats:italic>\n                    cause a combined immunodeficiency characterized by severe pathogen infections, eczema, allergies, malignancy, and impaired humoral responses. These clinical features result from functional defects in most lymphocyte lineages. Thus, DOCK8 plays a key role in immune cell function. Hematopoietic stem cell transplant (HSCT) is curative for DOCK8 deficiency. While previous reports have described clinical outcomes for DOCK8 deficiency following HSCT, the effect on lymphocyte reconstitution and function has not been investigated. Our study determined whether defects in lymphocyte differentiation and function in DOCK8-deficient patients were restored following HSCT. DOCK8-deficient T and B lymphocytes exhibited aberrant activation and effector function in vivo and in vitro. Frequencies of \u03b1\u03b2 T and MAIT cells were reduced, while \u03b3\u03b4T cells were increased in DOCK8-deficient patients. HSCT improved abnormal lymphocyte function in DOCK8-deficient patients. Elevated total and allergen-specific IgE in DOCK8-deficient patients decreased over time following HSCT. Our results document the extensive catalog of cellular defects in DOCK8-deficient patients and the efficacy of HSCT in correcting these defects, concurrent with improvements in clinical phenotypes. Overall, our findings reveal mechanisms at a functional cellular level for improvements in clinical features of DOCK8 deficiency after HSCT, identify biomarkers that correlate with improved clinical outcomes, and inform the general dynamics of immune reconstitution in patients with monogenic immune disorders following HSCT.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.127527","type":"journal-article","created":{"date-parts":[[2019,4,25]],"date-time":"2019-04-25T12:01:55Z","timestamp":1556193715000},"source":"Crossref","is-referenced-by-count":32,"title":["Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients"],"prefix":"10.1172","volume":"4","author":[{"given":"Bethany A.","family":"Pillay","sequence":"first","affiliation":[{"name":"Garvan Institute of Medical Research, Sydney, New South Wales, Australia."},{"name":"St Vincent\u2019s Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, New South 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